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MED13L gene

Known as: KIAA1025, THRAP2, TRAP240-LIKE PROTEIN 
National Institutes of Health

Related topics

Related topics

1 relation
MED24 gene

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2019
Review
2019
Is MED13L-related intellectual disability a recognizable syndrome?
2018
2018
MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype
Molecular anomalies in MED13L, leading to haploinsufficiency, have been reported in patients with moderate to severe intellectual… 
2018
2018
Language and Cognitive Impairment Associated with a Novel p.Cys63Arg Change in the MED13L Transcriptional Regulator
Mutations in the MED13L gene, which encodes a subunit of a transcriptional regulatory complex, result in a complex phenotype… 
2018
2018
Depletion of Mediator Kinase Module Subunits Represses Superenhancer-Associated Genes in Colon Cancer Cells
ABSTRACT In cancer, oncogene activation is partly mediated by acquired superenhancers, which therefore represent potential… 
2018
2018
Mediator complex component MED13 regulates zygotic genome activation and is required for postimplantation development in the mouse†, ‡
Abstract Understanding factors that regulate zygotic genome activation (ZGA) is critical for determining how cells are… 
Review
2017
Review
2017
Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.
2017
2017
Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes
Clinicians should consider that clinical exome sequencing provides the unique potential to disentangle complex phenotypes into… 
2015
2015
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome
MED13L haploinsufficiency has recently been described as responsible for syndromic intellectual disability. We planned a search… 
2014
2014
Further confirmation of the MED13L haploinsufficiency syndrome
MED13L haploinsufficiency syndrome has been described in two patients and is characterized by moderate intellectual disability… 
Review
2014
Review
2014
Impaired Development of Neural‐Crest Cell‐Derived Organs and Intellectual Disability Caused by MED13L Haploinsufficiency
MED13L is a component subunit of the Mediator complex, an important regulator of transcription that is highly conserved across… 
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